ALS Discussion with my Neurologist

[TPD16]

First of all, I would like to sincerely thank anyone and everyone who may come across this post while also apologizing for my likely/hopeful hysteria. I am 27 years old. About 9 months ago, I fell, hit my head, and struggled with concussion symptoms for the next 3-4 months. For the past 5 months I feel like my body is progressively deteriorating. My neurologist considers the fall/concussion as a possible first sign of some underlying ailment or coincidental. I estimate my energy level is about 40% of what it was while at the same time it depletes 2-3 times faster than before.

Currently, I have lost nearly all ability to move my left foot, cannot generate any push from that foot, am noticeably weaker in my left leg, cannot raise my right arm past 90 degrees, am noticeably weaker in that arm, have trouble speaking and only have the ability to speak in a monotone voice, which is both lower in volume and tone than before, and have problems swallowing(the best way I can describe it is that swallowing is no longer instinctual and requires me to think out the entire process).

I have had MRIs of my brain and spine, a swallowing study, lumbar puncture, and EMG. My neurologist's conclusion of the EMG was "without clear evidence of a lower motor neuron process, but rather its most striking feature was reduced activation consistent with UMN dysfunction." He also noted there were some muscles with "some small short duration polyphasic motor units and a suggestion of an early full recruitment pattern." No other test/imaging revealed anything of concern, including multiple rounds of blood work. At my most recent appointment, about a month ago, he told me that he was not confident in making a diagnosis but discussed three possibilities with me: 1) Multifocal Motor Neuropathy; 2) Primary Progressive MS; and 3) ALS. That is his current differential diagnosis, with the exception of ALS, his notes indicate PLS despite discussing ALS with me. The plan is to begin treatment and use it as a diagnostic, beginning with the MMN. I sent my radiology reports to an MS specialist, who determined it would not be appropriate for him to treat me. Although I do not consider this a complete 2nd opinion, my expectation of an MS diagnosis is lower after this second doctor declined to see me.

I understand that there is still a long way until I get any definitive diagnosis but it is very hard to get the thought of ALS out of my mind after I have had the conversation with my neurologist, which I interpreted as a serious and real possibility. As much as I try to block it out, it is difficult, and I have found this forum to be very informative and helpful. I apologize for this long winded post and if my post is inappropriate at this current time. However, I have contemplated writing this post over and over again over the past two months and quite frankly, and selfishly, just writing this post has helped me. If you have made it this far, I welcome any and all comments or advice you may have but I am particularly interested in the following two points:

1. Any insight on the two quotes I included above from my EMG report, specifically the polyphasic motor units and recruitment patterns, I have asked my neurologist about this and have attempted to do research on my own but I am just not understanding it or cannot determine if it is of any significance that it was mentioned in the report; and

2. My parents were with me when I had the ALS discussion with my neurologist and at the time of writing this post, I have only talked about the discussion with my best friend, my other doctors, and 3 family friends who are in the medical field and have been helping me throughout this process of finding a diagnosis. I have been pretty open about my current medical condition with other friends and family, with the exception of the possibility of ALS. My initial thought, practice, and request for those that I have told, is not to tell anyone else about it. But I am beginning to question this approach, and thinking about sharing it with a few select others.

Once again, I thank you for taking the time to read this and greatly appreciate any information you may have for me.

 

[Nikki J]

I am sorry you are having such issues

Who you tell is up to you. What is your goal in telling more people? My thought is that unless they can actively help or are necessary for emotional support to wait. A surprising number of people distance themselves at once when you are ill. More treat you differently. And for some there is an initial burst of omg what can I do. This tends to burn out fast Save it.

What are the qualifications of this neurologist? It is a strange differential given your imaging. I also have concerns about treating mmn first in your situation if this is not an academic neuromuscular specialist. The treatment is ivig which when necessary can be a miracle drug but does have strong side effects. It is absolutely true that sometimes ALS specialists use it if there is an mmn possibility when the differential is that or ALS It is also true that although mmn is rare you are young the most likely group to get it especially if you are male. Did you have a neromuscular panel? It isn’t required for an mmn disgnosis but it would support it if positive. So would a conduction block which you did not have Did you have an nfl level ? This can be elevated initially after concussion but should have normalized after a few months.

I would seek an urgent neuromuscular opinion at an academic medical center and I would say mmn is on the table. Mmn does benefit from early intervention and I know both Mayo and mgh have prioritized visits for it in the past.

 

[KimT]

Agree with everything Nikki posted. I would attempt to be seen by a neuromuscular specialist at a teaching hospital. I got my first opinion at Mayo, Jacksonville and another opinion at Johns Hopkins. It was worth the trip to Baltimore. I got a third opinion at University of Florida ALS Center in Jacksonville. I had extensive tests for autoimmune diseases and genetic testing for muscle diseases as well as lumbar puncture and repeat MRIs of the brain and spinal cord, at Mayo, with contrast.

 

[TPD16]

Hi Nikki J, thank you for the thoughtful response. Also, yes I am a male, sorry I left that out in my initial post. I'm going to try to answer each of your inquires in turn:

Telling people: My initial thoughts to keep it quiet for now were along the lines of what you said. For a little bit more of background, I was seeing a neurologist before my current one. My last appointment there was in May, in which I made the earliest available appointment for an EMG in August. More on my current neurologist is below. Not knowing what an EMG was, a lot of my early research on it had a tendency to point towards ALS. So it has been somewhat on my radar for some time now, but it was not until after the EMG in July that I even discussed the possibility with anyone. The discussion with my neurologist last month was the first time I talked about the possibility with my parents. I have not spoken with them in much depth about it since but I do think that was a complete shock to them. There was a very noticeable change in their interactions with me afterwards, although they have seemed to get a little closer to normal. But their reaction made me think it was better not to tell others, especially when I do not have a diagnosis. But there are definitely 2 and at most 5 people that I am thinking about discussing it with. The 2 in particular have been the most helpful throughout the whole time and actively go out of their way to help me and do whatever they can to try and put out the seemingly never ending fires that keep coming up. With that being said, I honestly don't know if withholding this information is the right thing to do since they are helping out so much and I often go to them for advice but I also feel that wanting to tell them is more of a selfish thought to lessen the burden I am currently feeling.

Qualifications of Neurologist: He is a specialist in neuromuscular disorders at UPenn, although his sub-specialties/concentrations are not in any of the disorders of the differential diagnosis. The initial office I went to was pretty much focused on the concussion and treating me for post concussion syndrome. As I kept getting worse, I made the move to a more prominent hospital.

IVIG: I have a prescription to begin IVIG but am currently in a bit of a battle with my insurance company and trying to determine what the best option is to begin the treatment. I am a little surprised by your comment about the strong side effects though. I was told that the side effects are very minor. The feeling I got from starting with IVIG was that it was the least severe treatment while also being used to treat the least severe ailment. Which was ultimately something that could be used to eliminate possibilities.

Neuromuscular panel/NFL: I do not believe I have either, but I am not certain on that.I had to look up both of these after reading your response and went back to look at my records and can't find anything on either.

I think I answered everything you asked and I cannot thank you enough for taking the time to help me.

 

[Nikki J]

What I was mostly thinking of for ivig was the risk of clots which can be fatal. There have been people here who had an ivig trial and got pulmonary emboli. If anyone died from ivig pes they didn’t come back to tell us obviously. People on ivig have told me they don’t always feel great either but ymmv. Ivig was on the table for me because I had a positive neuromuscular panel that looked like mmn. As a fals carrier it seemed unlikely and ultimately they did a repeat panel which was negative so never got it.

If it is going to be your answer you should know quickly. I believe by the end of the second cycle though they often do a third to be really sure

Anti gm1 antibody panel is another name for the neuromuscular panel.
Insurance that is not medicare usually like home infusioms but I think you would be started in the hospital infusion center first. My insurance at the time ivig was suggested required a PA and I think it asked about both conduction block and the blood panel. It is very expensive so they tend to put up road blocks

UPenn is a good facility. Somewhat surprised he didn’t laterally refer but imagine he will after ivig.

 

[TPD16]

Okay, understandable about the side effects.

I am trying for home infusions but might have to fall back and end up going to the hospital. Right now it's road block after road block. When I do get it started, I am scheduled for three cycles.

I am glad I said I wasn't certain about the neuromuscular panel because I have been tested for GM1 antibodies. Both IGG and IGM are very low, 4 and 5, respectively.

I am pretty happy with Penn. Although, I think a referral could be a possibility down the road. I've felt he's been a little evasive and has been very careful with his words when discussing LMN, even saying something like "I phrased it that way in case another doctor looks at this."Or there is always the chance I am over thinking it. I seem to do that a lot these days.

On a separate note, Kim, I hope you see this. I am still trying to figure this site out a little bit. After I posted my initial reply to Nikki, I did not have the ability to post another reply unless I upgraded or waited 2 days but now it appears that I do have the ability to reply again. Maybe because of Nikki's response, but I don't know. Nor am I sure I qualify to upgrade. So, I also want to say thank you to Kim! Your input was insightful and very much appreciated.

 

[Nikki J]

It sounds like a reasonable plan if his differential is on target.

Another thing to ask about though perhaps premature is genetic testing

 

[TPD16]

I hope so. I will keep that in mind to bring up at my next appointment.

I told my dr. today I want to be admitted to begin the treatment so I'm hoping that happens in the next few days.

 

[lgelb]

The EMG comments speak to MMN more than anything, but what were the comments on the NCS part? Do you have the reports? You have that right and could upload de-identified versions for better feedback. What you have reported is confusing to parse w/o more data.

 

[TPD16]

Lgelb, thanks for reaching out! I certainly do have the reports. I need to do a little work to de-identify them. I'll try to get that posted tomorrow.

 

[TPD16]

Lgelb, I apologize for the delayed response. I was admitted in to the hospital 9/7-9/10 to get my first round of IVIG treatment and just getting to my pre-hospital obligations. The attached pdf is a collection of my EMG results and doctor's commentary. I hope this clears up some of the confusion.